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The empowerment of translational research: lessons from laminopathies |
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| Authors: | Sara Benedetti Pia Bernasconi Enrico Bertini Elena Biagini Giuseppe Boriani Cristina Capanni Nicola Carboni Giovanna Cenacchi Marta Columbaro Monica D’Adamo Adele D’Amico Maria Rosaria D’Apice Marianna Fontana Alessandra Gambineri Giovanna Lattanzi Rocco Liguori Nadir M Maraldi Laura Mazzanti Eugenio Mercuri Tiziana Mongini Lucia O Morandi Iria Neri Giovanni Nigro Giuseppe Novelli Michela Ortolani Renato Pasquali Antonella Pini Stefania Petrini Luisa Politano Stefano Previtali Lisa Pucci Claudio Rapezzi Giulia Ricci Carmelo Rodolico Paolo Sbraccia Emanuela Scarano Gabriele Siciliano Stefano Squarzoni Antonio Toscano Liliana Vercelli Matteo Ziacchi |
| Affiliation: | 1. Laboratory of Molecular Biology, Diagnosis and Research San Raffaele, San Raffaele Scientific Institute, Milan, Italy 2. Neuroimmunology and Neuromuscular Disorders Unit, Foundation IRCCS Neurological Institute Carlo Besta, Milan, Italy 3. Bambino Ges?? Hospital, Rome, Italy 4. Institute of Cardiology, University of Bologna and Azienda Ospedaliera S.Orsola Malpighi, Bologna, Italy 5. National Research Council of Italy, Institute of Molecular Genetics, IGM-CNR, Unit of Bologna, via di Barbiano 1/10, 40136, Bologna, Italy 6. Neuromuscular Unit, Department of Cardiological and Neurological Sciences, University of Cagliari, Cagliari, Italy 7. Clinical Department of Radiological and Histopathological Sciences, University of Bologna, Bologna, Italy 8. Laboratory of Musculoskeletal Cell Biology, Istituto Ortopedico Rizzoli, Bologna, Italy 9. Department of Internal Medicine, University of Rome Tor Vergata, Rome, Italy 10. Fondazione Policlinico Tor Vergata, Rome, Italy 11. Fondazione G. Monasterio, CNR-Regione Toscana, Pisa, Italy 12. Division of Endocrinology, S.Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy 13. IRCCS, Istituto delle Scienze Neurologiche di Bologna, Department of Neurological Sciences, Bologna University, Bologna, Italy 14. Department of Paediatrics, University of Bologna, Bologna, Italy 15. Department of Paediatrics, Child Neurology and Psychiatry, Catholic University, Rome, Italy 16. Center for Neuromuscular Diseases, Department of Neuroscience, University of Turin, Turin, Italy 17. Department of Internal Medicine, Aging and Nephrological Diseases, Dermatology, University of Bologna, Bologna, Italy 18. Department of Experimental Medicine, Cardiomyology and Medical Genetics II, University of Naples, Naples, Italy 19. San Pietro Fatebenefratelli Hospital, Rome, Italy 20. UOC Paediatric Neuropsychiatry, Bellaria-Maggiore Hospital, Bologna, Italy 21. Division of Neuroscience and Institute of Experimental Neurology (INSPE), San Raffaele Scientific Institute, Milan, Italy 22. Diatheva SRL, Fano (PU), Italy 23. Department of Neuroscience, University of Pisa, Pisa, Italy 24. Department of Neurosciences, Psychiatry and Anaesthesiology, University of Messina, Messina, Italy |
| Abstract: | The need for a collaborative approach to complex inherited diseases collectively referred to as laminopathies, encouraged Italian researchers, geneticists, physicians and patients to join in the Italian Network for Laminopathies, in 2009. Here, we highlight the advantages and added value of such a multidisciplinary effort to understand pathogenesis, clinical aspects and try to find a cure for Emery-Dreifuss muscular dystrophy, Mandibuloacral dysplasia, Hutchinson-Gilford Progeria and forms of lamin-linked cardiomyopathy, neuropathy and lipodystrophy. |
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